Suppr超能文献

一种罕见的常染色体隐性疾病,先天性红细胞生成性卟啉病,在蔗田鼠(Rattus sordidus Gould,1858年)中被发现。

A rare autosomal recessive condition, congenital erythropoietic porphyria, found in the canefield rat Rattus sordidus Gould 1858.

作者信息

Rivera Dario F, Leung Luke K-P

机构信息

School of Animal Studies, University of Queensland, Gatton, Queensland, Australia.

出版信息

Integr Zool. 2008 Sep;3(3):216-8. doi: 10.1111/j.1749-4877.2008.00088.x.

Abstract

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive condition that has been reported in humans and in some animals, in which uroporphyrin 1 is deposited in the bones, teeth and urine, resulting in pink coloration and fluorescence of the tissues and urine under long-wave ultraviolet (UV) light. We observed red teeth in nine of 450 canefield rats (Rattus sordidus) captured in a small, isolated patch of sugarcane in Tully, north Queensland, Australia. The skeletons of these animals were excised and were found to be bright red under normal day light. Under UV light, the skeleton had a bright red fluorescence. It is plausible that the canefield rat population in this isolated patch of sugarcane is small and inbreeding might have occurred, resulting in incidences of the autosomal recessive genes that cause CEP. The canefield rat can be used as an animal model for research into porphyria.

摘要

先天性红细胞生成性卟啉病(CEP)是一种罕见的常染色体隐性疾病,已在人类和一些动物中被报道。在这种疾病中,尿卟啉原Ⅰ沉积在骨骼、牙齿和尿液中,导致组织和尿液在长波紫外线(UV)光下呈现粉红色并发出荧光。我们在澳大利亚昆士兰州北部塔利一个小而孤立的甘蔗地中捕获的450只蔗田鼠(黑家鼠)中,观察到9只牙齿呈红色。这些动物的骨骼被切除,在正常日光下发现呈鲜红色。在紫外线下,骨骼发出鲜红色荧光。很有可能这个孤立甘蔗地中的蔗田鼠种群规模较小,可能发生了近亲繁殖,导致了引发CEP的常染色体隐性基因的出现。蔗田鼠可作为卟啉病研究的动物模型。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验